Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria by Puy, H., Deybach, J.C., Lamoril, J., Robreau, A.M., Da Silva, V., Gouya, L., Grandchamp, B., Nordmann, Y.

Get full text

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria by Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Da Silva, Vasco, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles

Get full text

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France by Nordmann, Y., Puy, H., Da Silva, V., Simonin, S., Robreau, A. M., Bonaiti, C., Phung, L. N., Deybach, J. C.

Get full text

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type... by Whatley, Sharon D., Puy, Hervé, Morgan, Rhian R., Robreau, Anne-Marie, Roberts, Andrew G., Nordmann, Yves, Elder, George H., Deybach, Jean-Charles

Get full text

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases by Karoui, M, Tresallet, C, Julie, C, Zimmermann, U, Staroz, F, Brams, A, Muti, C, Boulard, C, Robreau, A-M, Puy, H, Malafosse, R, Penna, C, Pruvot, F-R, Thiery, J P, Boileau, C, Rougier, P, Nordlinger, B, Radvanyi, F, Franc, B, Hofmann-Radvanyi, H

Get full text

Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria by Deybach, Jean-Charles, Puy, Hervé, Robréau, Anne-Marie, Lamoril, Jérôme, Da Silva, Vasco, Grandchamp, Bernard, Nordmann, Yves

Get full text

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups : mutations causing acute intermittent porphyria and specific intragenic polymorphisms by ROBREAU-FRAOLINI, A. M, PUY, H, AQUARON, C, BOGARD, C, TRAORE, M, NORDMANN, Y, AQUARON, R, DEYBACH, J. C

Get full text

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis by Tchernitchko, D, Lamoril, J, Puy, H, Robreau, A.M, Bogard, C, Rosipal, R, Gouya, L, Deybach, J.C, Nordmann, Y

Get full text

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias by GOUYA, Laurent, PUY, Hervé, ROBREAU, Anne-Marie, LYOUMI, Said, LAMORIL, Jérome, DA SILVA, Vasco, GRANDCHAMP, Bernard, DEYBACH, Jean-Charles

Get full text

Loss of heterozygosity on 10q and mutational status of PTEN and BMPRIA in colorectal primary tumours and metastases by KAROUI, M, TRESALLET, C, MALAFOSSE, R, PENNA, C, PRUVOT, F-R, THIERY, J. P, BOILEAU, C, ROUGIER, P, NORDLINGER, B, RADVANYI, F, FRANC, B, HOFMANN-RADVANYI, H, JULIE, C, ZIMMERMANN, U, STAROZ, F, BRAMS, A, MUTI, C, BOULARD, C, ROBREAU, A-M, PUY, H

Get full text

Detection of Four Novel Mutations in the Porphobilinogen Deaminase Gene in French Caucasian Patients with Acute Intermittent Porphyria by Puy, H., Deybach, J.C., Lamoril, J., Robreau, A.M., Nordmann, Y.

Get full text

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria by Groß, U, Puy, H, Doss, M, Robreau, AM, Nordmann, Y, Doss, MO, Deybach, JC

Get full text

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria by PUY, H, GROSS, U, DEYBACH, J. C, ROBREAU, A. M, FRANK, M, NORDMANN, Y, DOSS, M

Get full text

Protoporphyrinogen Oxidase: Complete Genomic Sequence and Polymorphisms in the Human Gene by Puy, Hervé, Robréau, Anne-Marie, Rosipal, Robert, Nordmann, Yves, Deybach, Jean-Charles

Get full text